Full data view for gene DPYD

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ , blood - ?, ACRDYS1 NA04364 PubMed: Bell 2011 - M - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ blood - ACRDYS1 - PubMed: Linglart et al.2012 - F ? - - - - - - 1 Francesca Marta Elli
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, epilepsy - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, ADPKD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Both (homozygous) - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Both (homozygous) - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 13 c.1627A>G r.1627a>g p.Ile543Val DPYD*2B Parent #1 - likely benign g.97981395T>C g.97515839T>C A1627G - DPYD_000001 reference haplotype DPYD*2B [1905+1G>A;1627A>G] PubMed: McLeod 1998 - rs1801159 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/-? 13 c.1627A>G r.1627a>g p.Ile543Val DPYD*5 Parent #1 - likely benign g.97981395T>C g.97515839T>C A1627G - DPYD_000001 reference haplotype DPYD*5 [1905+1G=;1627A>G] PubMed: McLeod 1998 - rs1801159 Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/-? 13 c.1627A>G r.(?) p.(Ile543Val) - Parent #1 - likely benign g.97981395T>C g.97515839T>C - - DPYD_000001 mixed haplotype DPYD*5/*6; haplotype assignment requested pers. comm. - rs1801159 Unknown - - - - - DNA SEQ - - - private email - - ? ? United States - - - - - 1 Johan den Dunnen
-/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - benign g.97981395T>C g.97515839T>C DPYD(NM_000110.3):c.1627A>G (p.I543V), DPYD(NM_000110.4):c.1627A>G (p.I543V) - DPYD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - benign g.97981395T>C g.97515839T>C DPYD(NM_000110.3):c.1627A>G (p.I543V), DPYD(NM_000110.4):c.1627A>G (p.I543V) - DPYD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - benign g.97981395T>C g.97515839T>C DPYD 1:97753983 (hg18) het CM033371 25.0% - DPYD_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01899 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
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